Trichorhinophalangeal syndrome type I

Related Terms

Autosomal dominant, ectodermal dysplasia, inherited genetic disease, trichorhinophalangeal syndrome type I, trichorhinophalangeal syndrome type II, trichorhinophalangeal syndrome type III, TRP syndrome, TRP syndrome I, TRPS I, TRPS1.

Background

Trichorhinophalangeal syndrome type I (TRPS I) is a form of ectodermal dysplasia, one of a group of disorders deriving from prenatal abnormalities of the ectodermal structures, such as hair, teeth, nails, and sweat glands.
Trichorhinophalangeal syndrome type I is an extremely rare inherited multisystem disorder characterized by thin, sparse scalp hair, distinctive facial features, abnormalities of the fingers and toes, and skeletal dysplasia (multiple abnormalities of the "growing ends" of the bones). Characteristic facial features may include a rounded pear-shaped nose, an abnormally small jaw, dental anomalies, and unusually large ears. Individuals with TRPS may be slow to develop communication skills. There are three known types (I, II, and III) of trichorhinophalangeal syndrome.
TRPS I is marked by abnormalities of the bones and mild growth retardation. Bone problems may include cone-shaped bones in the fingers and toes, hip problems, and short stature. These features are typically detected later in childhood. Individuals with TRPS I tend to be of average intelligence.
TRPS I is passed down among family members. It is caused by a mutation or defect in the TRPS1 gene. The TRPS1 gene encodes the TRPS I protein and has been identified as a transcription factor, with two alternative transcripts, and is expressed in the fetal brain and kidney, and in the adult heart, brain, placenta, lung, liver, skeletal muscle, and pancreas.
TRPS I is usually inherited as a dominant trait, meaning that only one copy of the defective gene is needed for the condition to appear. However, it has been suggested that TRPS may be an autosomal recessive trait, meaning that two copies of the defective gene must be inherited for the condition to appear.
TRPS I affects males and females equally. Symptoms range from extremely mild to severe, which may make diagnosis difficult. In addition, the actual incidence of the condition is not known because many cases are not diagnosed.
Various treatments exist to address some of the symptoms associated with TRPS I. These may include surgery for the cone-shaped bone ends in the long bones of individuals with TRPS I, proper dental care, nonsteroidal anti-inflammatory drugs (NSAIDs) for relief from pain and inflammation, physical therapy, and speech-language therapy.

Signs and symptoms

General: As in most ectodermal dysplasias, the hair, teeth, and nails are affected in patients with trichorhinophalangeal syndrome type I (TRPS I). In addition, symptoms in patients with TRPS I vary widely, from extremely mild to severe. These symptoms are typically detected later in childhood.
Bones: People with TRPS I tend to have delayed bone age, or a delay in the development of the bones and delayed growth, causing short stature. The epiphyses or "growing ends" of the bones are affected in TRPS I, particularly in the hands and feet. In addition, the fingers and toes tend to be short and curved and the phalanges, the small bones that make up the fingers and toes, may be cone-shaped. Some people who are severely affected by TRPS I may have short forearm bones or flat feet.
Some patients with TRPS I may develop pain and limited range of motion from bone abnormalities, particularly in the hips and hands. Other related conditions may include arthritis in the fingers, elbows, or spine, loss of bone in the thigh, a prominent breastbone, sideways (scoliosis) or backward (lordosis) curvature of the spine, and winglike appearance of the shoulder blades.
Face and head: Patients with TRPS I may have a pear-shaped nose with a bulbous tip and an unusually small jaw. The ears may be large and stick out. The philtrum, the vertical groove in the upper lip beneath the nose, tends to be long and flat with a thin upper lip. There may also be a groove in the chin.
Hair: Hair on the scalp tends to be sparse, thin, and slow growing. It may also be brittle. The hairline may be receding in the front or back of the head. People with TRPS I may lose their hair at a young age, in some people as young as their 20s. Eyebrows also tend to be sparse and may be very thick toward the nose and very thin toward the temples.
Nails: In some cases, patients with TRPS I may have poorly developed or very thin or fragile fingernails and toenails. Nails may grow very slowly and may never require cutting.
Teeth: Patients with TRPS I may have dental problems such as small, discolored, abnormally soft, extra, or missing teeth. They may be especially prone to cavities.

Diagnosis

General: Symptoms of trichorhinophalangeal syndrome type I (TRPS I) range from mild to severe, which may make diagnosis difficult. TRPS I may be suspected based on the observation of craniofacial dysmorphism with sparse hair, a pear-shaped nose, an elongated area above the upper lip, and disabling deformities of the hands and feet. The diagnosis is confirmed by the radiologic finding of cone-shaped epiphyses at the base of the middle finger bones. In addition, a detailed family history and complete physical exam should be completed.
Imaging: X-rays may allow a clinician to observe the status of the spine, pelvis, arms, and legs. Skeletal abnormalities that can be diagnosed and tracked using X-rays include arthritis in the fingers, elbows, or spine, loss of bone in the thigh, a prominent breastbone, sideways (scoliosis) or backward (lordosis) curvature of the spine, winglike appearance of the shoulder blades, and cone-shaped epiphyses at the base of the middle finger bones.
Genetic testing: If TRPS I is suspected, DNA sequencing can be used to determine whether the individual has the defective TRPS1 gene. If this mutated gene is detected, a positive diagnosis is made.
Prenatal DNA testing: If there is a family history of TRPS I, prenatal testing may be performed to determine whether the fetus has the disorder. Amniocentesis and chorionic villus sampling (CVS) can diagnose TRPS I. However, because there are serious risks associated with these tests, patients should discuss the potential health benefits and risks with a medical professional.
During amniocentesis, a long, thin needle is inserted through the abdominal wall and into the uterus, and a small amount of amniotic fluid is removed from the sac surrounding the fetus. Cells in the fluid are then analyzed for normal and abnormal chromosomes. This test is performed after 15 weeks of pregnancy. The risk of miscarriage is about one in 200-400 patients. Some patients may experience minor complications, such as cramping, leaking fluid, or irritation where the needle was inserted.
During chorionic villus sampling (CVS), a small piece of tissue (chorionic villi) is removed from the placenta between the ninth and 14th weeks of pregnancy. CVS may be performed through the cervix or through the abdomen. The cells in the tissue sample are then analyzed for the mutation in the TRPS1 gene. Miscarriage occurs in about 0.5%-1% of women who undergo this procedure.

Complications

Arthritis: People with trichorhinophalangeal syndrome type I (TRPS I) may develop arthritis in the fingers, elbows, or spine.
Bone problems: Common bone problems seen in TRPS I include loss of bone in the thigh, a prominent breastbone, sideways (scoliosis) or backwards (lordosis) curvature of the spine, and winglike appearance of the shoulder blades.
Pain: Pain may be caused by arthritis, bone problems, and limited range of motion experienced by some people with TRPS I.
Respiratory infections: Some people with TRPS I may have frequent respiratory infections, which appear to have an unexplained association to TRPS.
Other: Although rare, low blood sugar, diabetes, or low thyroid function may be seen in patients with TRPS I.

Treatment

There is currently no known cure for trichorhinophalangeal syndrome type I (TRPS I). Instead, treatment aims to reduce symptoms and prevent complications.
Dental care: People with TRPS I should practice good preventive dental care, including brushing their teeth at least twice a day and flossing once a day, seeing a dentist every six months, and avoiding cavity-causing foods and beverages.
Nonsteroidal anti-inflammatory drugs (NSAIDs): Nonsteroidal anti-inflammatory drugs (NSAIDs) have been used to relieve pain and inflammation. Commonly used over-the-counter NSAIDs include ibuprofen (e.g., Advil? or Motrin?) and naproxen sodium (e.g., Aleve?). Higher strength versions of these drugs are also available by prescription. Commonly prescribed NSAIDs include diclofenac (e.g., Cataflam? or Voltaren?), nabumetone (e.g., Relafen?), and ketoprofen (e.g., Orudis?). NSAIDs are often taken by mouth, but they may also be may be injected in very severe cases or applied to the skin. Low doses of NSAIDs are generally taken to manage symptoms.
The U.S. Food and Drug Administration (FDA) requires that all NSAIDs print warning labels that highlight the risk of potential heart-related side effects and stomach bleeding. The labels must also state that patients who have recently had heart surgery should not take NSAIDs. The frequency and severity of side effects vary. The most common side effects include nausea, vomiting, diarrhea, constipation, decreased appetite, rash, dizziness, headache, and drowsiness. The most serious side effects include kidney failure, liver failure, ulcers, heart-related problems, and prolonged bleeding after an injury or surgery. About 15% of patients who receive long-term NSAID treatment develop ulcers in the stomach or duodenum.
Physical therapy: Physical therapy may help some patients with TRPS I improve their mobility. A variety of techniques, including exercises, stretches, traction, electrical stimulation, and massage, are used during physical therapy sessions.
Speech-language therapy: Some patients with TRPS I may benefit from speech-language therapy because these individuals are often slow to develop communication skills. During speech-language therapy, a qualified speech-language professional (SLP) works with the patient on a one-to-one basis, in a small group, or in a classroom, to help the patient improve speech, language, and communication skills. Programs are tailored to the patient's individual needs.
Speech pathologists use a variety of exercises to improve the patient's communication skills. Exercises typically start simple and become more complex as therapy continues. For instance, the therapist may ask the patient to name objects, tell stories, or explain the purpose of an object.
On average, patients receive five or more hours of therapy per week for three months to several years. Doctors typically recommend that treatment be started early to ensure the best possible prognosis for the child.
Surgery: Orthopedic surgery may be performed to treat or correct various skeletal problems that may be present in people with TRPS I, including scoliosis (sideways curvature of the spine) and lordosis (backward curving of the spine).

Integrative therapies

Note: Currently there is a lack of available scientific evidence on the use of integrative therapies for the treatment or prevention of trichorhinophalangeal syndrome type I (TRPS I). The therapies listed below have been studied for osteoarthritis and related conditions, should be used only under the supervision of a qualified healthcare provider, and should not be used in replacement of other proven therapies or preventive measures.
Strong scientific evidence:
Chondroitin: Multiple clinical trials have examined the use of oral chondroitin in patients with osteoarthritis of the knee and other locations (spine, hips, and finger joints). Most of these studies have reported significant benefits in terms of symptoms (such as pain), function (such as mobility), and reduced medication requirements (such as anti-inflammatory medications). The weight of scientific evidence points to a beneficial effect when chondroitin is used for six to 24 months Longer-term effects are not clear. Preliminary studies of topical chondroitin have also been conducted.
Chondroitin is frequently used with glucosamine. Glucosamine has independently been demonstrated to benefit patients with osteoarthritis (particularly of the knee). It remains unclear if there is added benefit of using these two agents together compared to using either alone. Chondroitin is currently manufactured from natural sources (shark/beef cartilage or bovine trachea) or by synthetic means. Avoid if allergic or hypersensitive to shellfish or iodine. Some reports suggest a link between glucosamine/chondroitin products and asthma. Use cautiously with diabetes or with a history of bleeding disorders. Avoid if pregnant or breastfeeding.
Glucosamine: Glucosamine is a natural compound that is found in healthy cartilage. Based on human research, there is good evidence to support the use of glucosamine sulfate in the treatment of mild-to-moderate knee osteoarthritis. Most studies have used glucosamine sulfate supplied by one European manufacturer (Rotta Research Laboratorium), and it is not known if glucosamine preparations made by other manufacturers are equally effective. Although some studies of glucosamine have not found benefits, these have either included patients with severe osteoarthritis or used products other than glucosamine sulfate. The evidence for the effect of glycosaminoglycan polysulphate is conflicting and merits further investigation. More well-designed clinical trials are needed to confirm safety and effectiveness, and to test different formulations of glucosamine.
Avoid if allergic or hypersensitive to shellfish or iodine. Some reports suggest a link between glucosamine/chondroitin products and asthma. Use cautiously with diabetes or with a history of bleeding disorders. Avoid if pregnant or breastfeeding.
Willow bark: Willow (Salix alba) bark that contains salicin has been used to treat many different kinds of pain. Willow bark is a traditional analgesic (pain relieving) therapy for osteoarthritis. Several studied have confirmed this finding. Additional study comparing willow bark to conventional medicinal agents for safety and effectiveness is warranted.
Avoid if allergic/hypersensitive to aspirin, willow bark (Salix spp.), or any of its constituents, including salicylates. Use cautiously with gastrointestinal problems (e.g. ulcers), hepatic disorders, diabetes, gout, hypertension, or hyperlipidemia. Use cautiously with a history of allergy, asthma, or leukemia. Use cautiously if taking medications such as antihyperlipidemia agents, alcohol, leukemia medications, beta-blockers, diuretics, phenytoin (Dilantin?), probenecid, spironolactone, sulfonylureas, valproic acid, or methotrexate. Use cautiously if pre-disposed to headaches. Use cautiously with tannin-containing herbs or supplements. Avoid operating heavy machinery. Avoid in children with chickenpox and other viral infections. Avoid with blood and renal disorders. Avoid if taking other NSAIDs, acetazolamide, or other carbonic anhydrase inhibitors. Avoid with elevated serum cadmium levels. Avoid if pregnant or breastfeeding.
Good scientific evidence:
Acupuncture: Acupuncture is commonly used throughout the world. According to Chinese medicine theory, the human body contains a network of energy pathways through which vital energy, called chi, circulates. These pathways contain specific "points" that function like gates, allowing chi to flow through the body. Needles are inserted into these points to regulate the flow of chi. There has been substantial research into the efficacy of acupuncture in the treatment of OA. Most studies focus on knee, cervical, and hip OA symptoms. In recent years, the evidence has improved and is now considered strong enough to recommend trying acupuncture in OA of the knee, which is one of the most common forms of this condition.
Avocado: A combination of avocado/soybean unsaponifiables (ASU) has been found beneficial in osteoarthritis of the knee and hip. Additional study using avocado (Persea Americana)alone in OA is needed.
Devil's claw: Devil's claw (Harpagophytum procumbens) originates from the Kalahari and Savannah desert regions of South and Southeast Africa. There is increasing scientific evidence suggesting that devil's claw may be safe and beneficial for the short-term treatment of pain related to degenerative joint disease or osteoarthritis (8-12 weeks), and may be equally effective as drug therapies such as non-steroidal anti-inflammatory drugs like ibuprofen (Advil?, Motrin?), or may allow for dose reductions or stopping of these drugs in some patients. However, most studies have been small with flaws in their designs. Additional well-designed trials are necessary.
Fish oil, omega-3 fatty acids: Multiple studies report improvements in morning stiffness and joint tenderness with the regular intake of fish oil supplements for up to three months. Additive benefits have been reported with anti-inflammatory medications, such as nonsteroidal anti-inflammatory drugs (e.g., ibuprofen). However, because of weaknesses in study designs and reporting, better research is necessary before a strong favorable recommendation can be made. Effects beyond three months of treatment have not been well evaluated. Avoid if allergic or hypersensitive to fish, omega-3 fatty acid products that come from fish, nuts, linolenic acid, or omega-3 fatty acid products that come from nuts. Avoid during active bleeding. Use cautiously with bleeding disorders, diabetes, low blood pressure, or if taking drugs, herbs, or supplements that treat any such conditions. Use cautiously before surgery. The Environmental Protection Agency (EPA) recommends that fish intake be limited in pregnant or nursing women to a single six-ounce meal per week and in young children to less than two ounces per week. For farm-raised, imported, or marine fish, the U.S. Food and Drug Administration recommends that pregnant or nursing women and young children avoid eating types with higher levels of methylmercury and less than 12 ounces per week of other fish types. Women who might become pregnant are advised to eat seven ounces or less per week of fish with higher levels of methylmercury or up to 14 ounces per week of fish types with about 0.5 parts per million (such as marlin, orange roughy, red snapper, or fresh tuna).
Glucosamine: Several human studies and animal experiments report benefits of glucosamine in treating osteoarthritis of various joints of the body, although the evidence is less plentiful than that for knee osteoarthritis. Some of these benefits include pain relief, possibly due to an anti-inflammatory effect of glucosamine, and improved joint function. Overall, these studies have not been well designed. Although there is some promising research, more study is needed in this area before a firm conclusion can be made.
Physical therapy: The goal of physical therapy is to improve mobility, restore function, reduce pain, and prevent further injuries. Several techniques, including exercises, stretches, traction, electrical stimulation, and massage, are used. Physical therapy for osteoarthritis of the knee may provide short-term benefits, but long-term benefits do not appear better than standard treatments. Physical therapy, either as an individually delivered treatment or in a small group format, appears effective. Limited available human study compared physical therapy to a sham group (sub therapeutic ultrasound) and found that a combination of manual physical therapy and supervised exercise was beneficial for patients with osteoarthritis of the knee.
Not all physical therapy programs are suited for everyone, and patients should discuss their medical history with their qualified healthcare professionals before beginning any treatments. Based on the available literature, physical therapy appears generally safe when practiced by a qualified physical therapist. Physical therapy may aggravate pre-existing conditions. Persistent pain and fractures of unknown origin have been reported. Physical therapy may increase the duration of pain or cause limitation of motion. Pain and anxiety may occur during the rehabilitation of patients with burns. Both morning stiffness and bone erosion have been reported in the literature, although causality is unclear. Erectile dysfunction has also been reported. All therapies during pregnancy and breastfeeding should be discussed with a licensed obstetrician/gynecologist before initiation.
SAMe: S-adenosyl-L-methionine (SAMe) is a naturally occurring molecule that is found in humans. SAMe is present in almost every tissue and fluid in the body, and it has been studied extensively in the treatment of osteoarthritis. SAMe has been shown to reduce the pain associated with osteoarthritis and is well tolerated in this patient population. Although an optimal dose has yet to be determined, SAMe appears as effective as the non-steroidal anti-inflammatory drugs (NSAIDS). Additional study is warranted to confirm these findings.
TENS(transcutaneous electrical nerve stimulation): Transcutaneous electrical nerve stimulation (TENS) is a non-invasive technique in which a low-voltage electrical current is delivered through wires from a small power unit to electrodes located on the skin. Electrodes are temporarily attached with paste in various patterns, depending on the specific condition and treatment goals. Preliminary studies of TENS in osteoarthritis report improvements in joint function and pain. However, most research is not well designed or reported, and better studies are necessary before a clear conclusion can be reached.
Avoid with implantable devices, such as defibrillators, pacemakers, intravenous infusion pumps, or hepatic artery infusion pumps. Use cautiously with decreased sensation (such as neuropathy) or with seizure disorders. Avoid if pregnant or breastfeeding due to a lack of safety evidence.
Unclear or conflicting scientific evidence:
Arnica: Arnica (Arnica montana) gel has been used on the skin for osteoarthritis pain and stiffness, due to its anti-inflammatory constituents. Although early study is promising, additional study is needed.
Ashwagandha: The use of ashwagandha in osteoarthritis has been suggested based on its reported anti-inflammatory and anti-arthritic properties. Well-designed human research is needed to confirm these results.
Beta carotene: Beta-carotene is a member of the carotenoids, which are highly pigmented (red, orange, yellow), fat-soluble compounds naturally present in many fruits, grains, oils, and vegetables (green plants, carrots, sweet potatoes, squash, spinach, apricots, and green peppers). Beta-carotene supplementation does not appear to prevent osteoarthritis, but it may slow progression of the disease. Well-designed clinical trials are needed before a conclusion can be drawn.
Supplemental beta-carotene may increase the risk of lung cancer, prostate cancer, intracerebral hemorrhage, and cardiovascular and total mortality in people who smoke cigarettes or who have a history of high-level exposure to asbestos. Beta-carotene from foods does not seem to have this effect. Dizziness, reversible yellowing of palms, hands, or soles of feet and to a lesser extent the face (called carotenoderma) can occur with high doses (50-300 milligrams daily) of beta-carotene. Loose stools, diarrhea, unusual bleeding or bruising, and joint pain have been reported.
Black cohosh: There is not enough human research to make a clear recommendation regarding the use of black cohosh for painful joints in osteoarthritis. Use cautiously if allergic to members of the Ranunculaceaefamily, such as buttercups or crowfoot. Avoid with hormone-mediated conditions, for example, breast, ovarian, or uterine cancer or endometriosis. Avoid if allergic to aspirin products; nonsteriodal anti-inflammatory drugs (NSAIDs), such as Motrin? or ibuprofen; blood thinners, such as warfarin; or with a history of blood clots, stroke, seizures, or liver disease. Stop use before surgery or dental or diagnostic procedures with a bleeding risk and avoid immediately following these procedures. Avoid if pregnant or breastfeeding.
Black currant: The black currant shrub is native to Europe and parts of Asia. Traditionally, black currant fruit has been cultivated mainly for dietary and confectionary purposes. Black currant may help reduce inflammation and morning stiffness associated with arthritis. However, additional research is needed before a firm conclusion can be made. Avoid if allergic or hypersensitive to black currant, its constituents, or plants in the Saxifragaceae family. Avoid with bleeding disorders or if taking blood thinners, unless otherwise recommended by a qualified healthcare provider. Use cautiously with venous disorders or gastrointestinal disorders. Use cautiously if taking antidepressants or vitamin C supplements. Avoid if pregnant or breastfeeding.
Boron: Boron is a trace element, which is found throughout the environment. Based on human population research, individuals who eat foods rich in boron (including green vegetables, fruits, and nuts) appear to have fewer joint disorders. It has also been proposed that boron deficiency may contribute to the development of osteoarthritis. However, it is currently unclear if supplementation with boron is beneficial as prevention against or as a treatment for osteoarthritis.
Boswellia: Resin extracts from the Boswellia serrata tree have been found to have anti-inflammatory effects. Due to boswellia's potential anti-inflammatory properties, boswellia has been suggested as a potential treatment for osteoarthritis. Further research is needed in this area. Boswellia may increase bleeding in sensitive individuals, such as those taking blood thinning medications including warfarin (Coumadin?) and aspirin.
Bromelain: Bromelain is an herb that contains a digestive enzyme that comes from the stem and the fruit of the pineapple plant (Ananus comosus). When taken with meals, bromelain may aid in the digestion of proteins. When taken on an empty stomach it acts as an anti-inflammatory agent. Results of a study found a combination supplement called ERC (enzyme-rutosid combination -rutosid, bromelain, trypsin) may be considered as an effective and safe alternative to prescription anti-inflammatory drugs (NSAIDs), such as diclofenac, in the treatment of painful episodes of OA of the knee. Further well-designed clinical trials of bromelain alone are needed to confirm these results
Avoid if allergic to bromelain, pineapple, honeybee, venom, latex, birch pollen, carrots, celery, fennel, cypress pollen, grass pollen, papain, rye flour, wheat flour, or other members of the Bromeliaceaefamily. Use cautiously with a history of bleeding disorders, stomach ulcers, heart disease, liver disease, or kidney disease. Use cautiously before dental or surgical procedures or while driving or operating machinery. Avoid if pregnant or breastfeeding.
Cat's claw: Cat's claw is widely used in the United States and Europe, and it is one of the top herbal remedies sold despite a lack of high-quality human evidence. In Germany and Austria, cat's claw is only available by prescription. Several laboratory and animal studies suggest that cat's claw may reduce inflammation, and this has led to research of cat's claw for inflammatory conditions, such as arthritis. Early research also suggests that cat's claw may reduce pain from knee osteoarthritis. Large, high-quality human studies are needed comparing effects of cat's claw alone vs. placebo before a conclusion can be drawn.
Avoid if allergic to Cat's claw, Uncaria plants, or plants in the Rubiaceae family (such as gardenia, coffee, or quinine). Avoid with a history of conditions affecting the immune system (such as AIDS, HIV, multiple sclerosis, tuberculosis, or lupus). Use cautiously with bleeding disorders or with a history of stroke. Use cautiously if taking drugs that may increase the risk of bleeding. Stop use two weeks before and immediately after surgery/dental/diagnostic procedures with bleeding risk. Avoid if pregnant or breastfeeding. Cat's claw may be contaminated with other Uncaria species. Reports exist of the potentially toxic Texan grown plant, Acacia gregii, being substituted for cat's claw.
Chiropractic: Chiropractic is a healthcare discipline that focuses on the relationship between musculoskeletal structure (primarily the spine) and body function (as coordinated by the nervous system), and how this relationship affects the preservation and restoration of health. Promising results were obtained in the treatment of osteoarthritis using manual physical therapy and exercise. However, presently there is insufficient evidence to support the use of chiropractic manipulation for this condition.
Copper: The use of copper bracelets to treat arthritis has a long history of traditional use, with many anecdotal reports of effectiveness. There are research reports suggesting that copper salicylate may reduce arthritis symptoms more effectively than either copper or aspirin alone. Further study is needed before a recommendation can be made. Avoid if allergic or hypersensitive to copper. Avoid use of copper supplements during the early phase of recovery from diarrhea. Avoid with hypercupremia, occasionally observed in cutaneous leishmaniasis, sickle-cell disease, unipolar depression, breast cancer, epilepsy, measles, Down syndrome, and controlled fibrocalculous pancreatic diabetes, which is a unique form of secondary diabetes mellitus. Avoid with genetic disorders affecting copper metabolism such as Wilson's disease, Indian childhood cirrhosis, or idiopathic copper toxicosis. Avoid with HIV/AIDS. Use cautiously with water containing copper concentrations greater than 6 milligrams per liter. Use cautiously with anemia, arthralgias, and myalgias. Use cautiously if taking oral contraceptives. Use cautiously if at risk for selenium deficiency. The U.S. recommended dietary allowance (RDA) is 1,000 micrograms per day for pregnant women and 1,300 micrograms per day for nursing women.
Dong quai: Dong quai is traditionally used to treat arthritis. However, there is not enough reliable human evidence to recommend the use of dong quai alone or in combination with other herbs. Although dong quai is accepted as a safe food additive in the United States and Europe, its safety in medicinal doses is not known. Reliable long-term studies of side effects are currently unavailable. Avoid if allergic or hypersensitive to Angelica radixor members of the Apiaceae or Umbelliferae family (e.g., anise, caraway, carrot, celery, dill, and parsley). Avoid prolonged exposure to sunlight or ultraviolet light. Use caution with bleeding disorders or with drugs that may increase the risk of bleeding. Use cautiously with diabetes, glucose intolerance or hormone-mediated conditions, such as breast cancer, or uterine or ovarian cancer. Do not use before dental or surgical procedures. Avoid if pregnant or breastfeeding.
Evening primrose oil: Evening primrose oil contains an omega-6 essential fatty acid called gamma-linolenic acid (GLA), which is believed to be the active ingredient. Benefits of evening primrose oil in the treatment of arthritis have not been clearly indicated. More information is needed before a recommendation can be made. Avoid if allergic to plants in the Onagraceae family (e.g., willow's herb and enchanter's nightshade) or gamma-linolenic acid. Avoid with seizure disorders. Use cautiously if taking drugs to treat psychological conditions. Stop use two weeks before surgery with anesthesia. Avoid if pregnant or breastfeeding.
Green tea: Research indicates that green tea may benefit patients with arthritis by reducing inflammation and slowing cartilage breakdown. Further studies are required before a recommendation can be made. Avoid if allergic or hypersensitive to caffeine or tannins. Use cautiously with diabetes or liver disease.
Guided imagery: Guided imagery refers to a number of techniques, including metaphor, storytelling, fantasy, game playing, dream interpretation, drawing, visualization, active imagination, and direct suggestion, using imagery. Therapeutic guided imagery may be used to help patients relax and focus on images associated with personal issues they are confronting. Cognitive-behavioral interventions for pain may be an effective adjunct to standard pharmacologic interventions for pain in patients with osteoarthritis. Further research is needed to confirm these results.
Guided imagery is usually intended to supplement medical care, not to replace it, and guided imagery should not be relied on as the sole therapy for a medical problem. Contact a qualified healthcare provider if mental or physical health is unstable or fragile. Guided imagery techniques should not be used while driving or doing any other activity that requires strict attention. Use cautiously with physical symptoms that can be brought about by stress, anxiety, or emotional upset because imagery may trigger these symptoms.
Magnet therapy: Magnetic fields play an important role in Western medicine. For instance, they are used for magnetic resonance imaging (MRI), pulsed electromagnetic fields, and experimental magnetic stimulatory techniques. Several studies have evaluated the use of magnetic field therapy applied to areas affected by osteoarthritis or degenerative joint disease. In particular, this research has focused on knee osteoarthritis. However, most studies have been small or poorly designed or reported. Efficacy remains unclear. Larger and better quality studies are needed.
Avoid with implantable medical devices, such as heart pacemakers, defibrillators, insulin pumps, or hepatic artery infusion pumps. Avoid with myasthenia gravis or bleeding disorders. Avoid if pregnant or breastfeeding. Magnet therapy is not advised as the sole treatment for potentially serious medical conditions, and should not delay the time to diagnosis a condition. It should also not replace treatment with more proven methods. Patients are advised to discuss magnet therapy with their qualified healthcare providers before starting treatment.
Mistletoe: Once considered a sacred herb in Celtic tradition, mistletoe has been used for centuries for high blood pressure, epilepsy, exhaustion, anxiety, arthritis, vertigo (dizziness), and degenerative inflammation of the joints. According to limited available case study, mistletoe injections may help manage arthritis. Further research is needed before a firm conclusion can be made. Avoid if allergic or hypersensitive to mistletoe or any of its constituents. A life-threatening allergic reaction called anaphylaxis has been described after injections of mistletoe. Avoid with acute highly febrile inflammatory disease, thyroid disorders, seizure disorders, or heart disease. Use cautiously with diabetes, glaucoma, or if taking cholinergics.
MSM: Methylsulfonylmethane, or MSM, is a form of organic sulfur that occurs naturally in a variety of fruits, vegetables, grains, and animals. MSM is a normal oxidation product of dimethyl sulfoxide (DMSO). Preliminary study has used MSM, alone or in combination with glucosamine, in the treatment of osteoarthritis. The combination may provide pain relief and reduction in inflammation. Further studies on MSM and its effects on patients with osteoarthritis are warranted.
Niacin: Vitamin B3 consists of niacin (nicotinic acid) and its amide, niacinamide, and can be found in many foods, including yeast, meat, fish, milk, eggs, green vegetables, and cereal grains. Preliminary human studies suggest that niacinamide may be useful in the treatment of osteoarthritis. Further research is needed.
Pantothenic acid (vitamin B5): Pantothenic acid is found in many foods, including, meats, liver, kidney, fish/shellfish, chicken, vegetables, legumes, yeast, eggs, and milk. Pantothenic acid has been suggested as a possible treatment for osteoarthritis. However, further research is needed to determine whether or not this treatment is effective.
Avoid if allergic or hypersensitive to pantothenic acid or dexpanthenol. Avoid with gastrointestinal blockage. Pantothenic acid is generally considered safe in pregnant and breastfeeding women.
Relaxation therapy: Relaxation techniques include behavioral therapeutic approaches that differ widely in philosophy, methodology, and practice. The primary goal is usually non-directed relaxation. In a randomized study of patients with osteoarthritis pain, Jacobson relaxation was reported to lower the level of subjective pain over time. The study concluded that relaxation may be effective in reducing the amount of analgesic medication taken by participants. Further well-designed research is needed to confirm these results.
Avoid with psychiatric disorders, such as schizophrenia or psychosis. Jacobson relaxation, which involves flexing and relaxing specific muscles, should be used cautiously with illnesses such as heart disease, high blood pressure, or musculoskeletal injury. Relaxation therapy is not recommended as the sole treatment approach for potentially serious medical conditions, and it should not delay the time to diagnosis or treatment with more proven techniques.
Stinging nettle: Stinging nettle is found in Africa, Europe, and North America. This perennial plant has been used as medicinally since ancient times. Nettle is widely used as a folk remedy to treat arthritic and rheumatic conditions throughout Europe and in Australia. Preliminary evidence suggests that certain constituents in the nettle plant have anti-inflammatory or immunomodulatory activity. More study is needed to confirm these findings. Avoid if allergic or hypersensitive to nettle, the Urticaceae family, or any ingredient of nettle products. Use cautiously with diabetes, bleeding disorders, or low blood sodium levels. Use cautiously with diuretics and anti-inflammatory drugs. The elderly should also use nettle cautiously. Avoid if pregnant or breastfeeding.
Tai chi: Tai chi is a system of movements and positions believed to have been developed in 12th Century China. Tai chi techniques aim to address the body and mind as an interconnected system, and are traditionally believed to have mental and physical health benefits to improve posture, balance, flexibility, and strength. A small trial in women with osteoarthritis reported that treatment with tai chi significantly decreased pain and stiffness compared with a sedentary lifestyle. Women in the tai chi group also reported fewer perceptions of difficulties in physical functioning.
Turmeric: The rhizome (root) of turmeric (Curcuma longa Linn.) has long been used in traditional Asian medicine. Turmeric has been used historically to treat rheumatic conditions. Laboratory and animal studies show anti-inflammatory activity of turmeric and its constituent curcumin, which may be beneficial in people with osteoarthritis. Reliable human research is lacking. Turmeric may increase bleeding in sensitive individuals, such as those taking blood thinning medications including warfarin (Coumadin?) and aspirin. Further research is necessary.
Yoga: Yoga is an ancient system of relaxation, exercise, and healing with origins in Indian philosophy. Yoga is often practiced by healthy individuals with the aim to achieve relaxation, fitness, and a healthy lifestyle. Based on a pilot study, yoga may help reduce pain and disability caused by knee osteoarthritis (OA) in some patients. Further research is needed.

Prevention

General: Because trichorhinophalangeal syndrome type I (TRPS I) is an inherited condition, there is currently no known way to prevent the disease. However, a number of options are available for prospective parents with family histories of TRPS I.
Genetic testing and counseling: Individuals who have TRPS I may meet with a genetic counselor to discuss the risks of having children with the disease. Individuals with family histories of TRPS I may meet with a genetic counselor to determine whether they carry the defective TRPS1 gene. Carriers can be determined through detailed family histories or genetic testing.
Known carriers of TRPS I may undergo genetic counseling before they conceive a child. Genetic counselors can explain the options and the associated risks of various tests, including pre-implantation genetic diagnosis (PGD), amniocentesis, and chorionic villus sampling (CVS).
Pre-implantation genetic diagnosis (PGD) may be used with in vitro (artificial) fertilization. In PGD, embryos are tested for the defective TRPS1 gene, and only the embryos that are not affected may be selected for implantation. Because TRPS I can be detected in a fetus, parents may choose whether to continue the pregnancy. Genetic counselors may assist parents with these difficult decisions.

Author information

This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

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Causes

Autosomal dominant inheritance: Trichorhinophalangeal syndrome type I (TRPS I) is caused by a mutation or defect in the TRPS1 gene. The TRPS1 gene encodes the TRPS I protein and has been identified as a transcription factor with two alternative transcripts, and is expressed in the fetal brain and kidney, and in the adult heart, brain, placenta, lung, liver, skeletal muscle, and pancreas. TRPS I is inherited, or passed down among family members, as a dominant autosomal trait. Individuals receive two copies of most genes, one from the mother and one from the father. For a dominant disorder to appear, only one defective copy of the TRPS1 gene is necessary. If one parent has the disorder, there is a 50% chance that his or her child will have the disorder. If both parents have the disorder, there is a 75% chance that their child will have the disorder.
Autosomal recessive inheritance: Rarely, TRPS I occurs as an autosomal recessive trait. Therefore, a person must inherit two copies of the defective gene, one from each parent. Individuals who inherit only one copy of the defective TRPS1 gene generally have no symptoms and are called carriers because they can pass on the disorder to their children.
If one parent is a carrier, or has only one copy of the defective gene, then each child has a 50% chance of inheriting one defective gene and of also being a carrier. If both parents are carriers, each child has a 25% chance of inheriting two defective genes, a 50% chance of inheriting one defective gene, and a 25% chance of inheriting neither defective gene. Therefore, if both parents are carriers, about one out of four children will have TRPS I.
Sometimes, a person with only one copy of the recessive defective TRPS1 gene will still develop the disorder. This is because the normal copy of the gene cannot compensate for the defective gene, a condition known as haploinsufficiency.
Random occurrence: It is currently unknown whether TRPS I can occur as the result of a spontaneous genetic mutation with no family history of the disease.

Risk factors

Currently, the only known risk factor for trichorhinophalangeal syndrome type I (TRPS I) is a family history of the disease. Trichorhinophalangeal syndrome type I (TRPS I) is caused by a mutation or defect in the TRPS1 gene. TRPS I is usually inherited, or passed down among family members, as a dominant trait, although it has been proposed that TRPS I may be inherited as an autosomal recessive trait.

Types of the disease

There are three types (I, II, and III) of trichorhinophalangeal syndrome.
TRPS I is marked by abnormalities of the bones and mild growth retardation. Bone problems may include cone-shaped bones in the fingers and toes, hip problems, and short stature. These features are typically detected later in childhood. Individuals with TRPS I tend to be of average intelligence.
Trichorhinophalangeal syndrome type II is characterized by a bulbous, pear-shaped nose, elongated upper lip, sparse hair, cone-shaped bone ends, and mild growth retardation, as is observed in TRPS I and III. However, TRPS II can be distinguished from TRPS I by the presence of extra skin. While TRPS I is inherited in an autosomal dominant fashion, most cases of TRPS II occur spontaneously, although there are a few cases that are inherited.
Trichorhinophalangeal syndrome type III shares many common features with TRPS I. However, unlike TRPS I, TRPS III is associated with extremely short fingers and short stature. The mechanisms underlying the genetic transmission of TRPS III have not been determined.